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Journal Abstract Search

507 related items for PubMed ID: 18458862

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  • 2. Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
    McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT.
    Mol Genet Metab; 2007 Dec; 92(4):325-35. PubMed ID: 17723315
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  • 5. Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
    Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG.
    Hum Mutat; 2006 Oct; 27(10):999-1006. PubMed ID: 16917947
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  • 6. Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
    Vorgerd M, Burwinkel B, Reichmann H, Malin JP, Kilimann MW.
    Neurogenetics; 1998 Mar; 1(3):205-11. PubMed ID: 10737124
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  • 7. Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.
    Remiche G, Ronchi D, Magri F, Lamperti C, Bordoni A, Moggio M, Bresolin N, Comi GP.
    J Neurol; 2014 Jan; 261(1):83-97. PubMed ID: 24158270
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  • 8. Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
    Lam CW, Yuen YP, Chan KY, Tong SF, Lai CK, Chow TC, Lee KC, Chan YW, Martiniuk F.
    Neurology; 2003 Feb 25; 60(4):715-7. PubMed ID: 12601120
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  • 11. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
    Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP, Fletcher J, Bosshard N, Basel-Vanagaite L, Besley G, Reuser AJ.
    Hum Mutat; 2004 Jan 25; 23(1):47-56. PubMed ID: 14695532
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  • 12. Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
    Ngiwsara L, Wattanasirichaigoon D, Tim-Aroon T, Rojnueangnit K, Noojaroen S, Khongkraparn A, Sawangareetrakul P, Ketudat-Cairns JR, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Svasti J.
    BMC Med Genet; 2019 Sep 11; 20(1):156. PubMed ID: 31510962
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  • 14. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
    Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ.
    Neurology; 2007 Jan 09; 68(2):110-5. PubMed ID: 17210890
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  • 16. Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
    Liu X, Wang Z, Jin W, Lv H, Zhang W, Que C, Huang Y, Yuan Y.
    BMC Med Genet; 2014 Dec 20; 15():141. PubMed ID: 25526786
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  • 17. [Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II].
    Liu Q, Zhao J, Wang ZX, Zhang W, Yuan Y.
    Zhonghua Yi Xue Za Zhi; 2013 Jul 02; 93(25):1981-5. PubMed ID: 24169249
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  • 18. Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing.
    Maimaiti M, Takahashi S, Okajima K, Suzuki N, Ohinata J, Araki A, Tanaka H, Mukai T, Fujieda K.
    J Hum Genet; 2009 Aug 02; 54(8):493-6. PubMed ID: 19609281
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  • 19. Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
    Momosaki K, Kido J, Yoshida S, Sugawara K, Miyamoto T, Inoue T, Okumiya T, Matsumoto S, Endo F, Hirose S, Nakamura K.
    J Hum Genet; 2019 Aug 02; 64(8):741-755. PubMed ID: 31076647
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  • 20. Novel GAA mutations in patients with Pompe disease.
    Turaça LT, de Faria DO, Kyosen SO, Teixeira VD, Motta FL, Pessoa JG, Rodrigues E Silva M, de Almeida SS, D'Almeida V, Munoz Rojas MV, Martins AM, Pesquero JB.
    Gene; 2015 Apr 25; 561(1):124-31. PubMed ID: 25681614
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